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GATA4 Gene Tetralogy of Fallot NGS Genetic Test

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GATA4 Gene Tetralogy of Fallot NGS Genetic Test

Short Name: GATA4 TOF NGS Test

Also known as: Tetralogy of Fallot Genetic Test, GATA4 Gene Test for TOF, Congenital Heart Defect Genetic Test

GATA4 Gene Tetralogy of Fallot NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood, Extracted DNA, or One drop Blood on FTA Card samples. Results in 3-4 weeks from sample collection to report delivery.. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS) Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of this test is to detect genetic mutations in the GATA4 gene that are linked to Tetralogy of Fallot, aiding in early diagnosis, risk assessment for family members, and personalized treatment strategies to improve patient outcomes.

Test Code
5296
ICD Code
Q21.3
Price
₹20,000
Sample Type
Blood, Extracted DNA, or One drop Blood on FTA Card
Result Time
3-4 weeks from sample collection to report delivery.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Provide detailed clinical history of the patient and undergo a genetic counseling session to draw a pedigree chart of family members affected with Tetralogy of Fallot or related conditions.

Method: Venipuncture

Step 2

Laboratory Analysis

A small blood sample will be collected via venipuncture from a vein in the arm, or alternatively, extracted DNA or a blood drop on an FTA card may be used.

Step 3

Report Delivery

The sample will be labeled, processed, and sent to the laboratory for NGS analysis. Results will be compiled and reviewed by geneticists.

Timeline: 3-4 weeks from sample collection to report delivery.

Patient Instructions

1
Before the Test:Genetic counseling session to discuss family history, test implications, and obtain informed consent. Provide clinical history and any previous diagnostic reports.
2
During the Test:Blood sample collection via venipuncture or alternative methods as specified. The sample is processed and sequenced using NGS technology.
3
After the Test:Results are analyzed by geneticists, and a detailed report is generated. Genetic counseling is provided to discuss findings and next steps.

About This Test

Who Should Get This Test

The purpose of this test is to detect genetic mutations in the GATA4 gene that are linked to Tetralogy of Fallot, aiding in early diagnosis, risk assessment for family members, and personalized treatment strategies to improve patient outcomes.

How to Prepare

  • No fasting is required unless specified by the physician
  • Bring a valid ID, prescription, and any previous medical reports
  • Inform the phlebotomist about any medications or health conditions
  • Ensure the sample is collected in a sterile environment to avoid contamination

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic testing for GATA4 mutations can aid in early diagnosis and management of Tetralogy of Fallot, especially in families with a history of congenital heart defects, enabling personalized care and genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or One drop Blood on FTA Card
Sample Volume2-5 mL of blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood sample stable for 24 hours at room temperature (20-25°C)
Extracted DNA stable for up to 1 week if stored properly at 2-8°C
FTA card samples stable for long-term storage at room temperature
Sample Rejection Criteria:
  • Insufficient sample volume (less than 2 mL of blood)
  • Hemolyzed, clotted, or improperly labeled samples
  • Use of incorrect collection container or expired FTA cards
  • Samples contaminated or mishandled during transport

Understanding Your Results

Results from the GATA4 Gene Tetralogy of Fallot NGS Genetic Test indicate the presence or absence of pathogenic mutations in the GATA4 gene. Interpretation should be done by a qualified geneticist or cardiologist in correlation with clinical findings.
📊

No pathogenic variant detected

Low risk for GATA4-related Tetralogy of Fallot. Clinical correlation is advised, as other genetic or environmental factors may be involved.

📊

Pathogenic variant detected

High risk for Tetralogy of Fallot. Genetic counseling, family screening, and personalized management plans are recommended. Consult a cardiologist for further evaluation.

⚠️ When to Consult a Doctor:

If symptoms of Tetralogy of Fallot are present (e.g., cyanosis, fainting), or if there is a family history of congenital heart defects, consult a cardiologist or geneticist promptly for diagnosis and management.

Limitations

  • ⚠This test only analyzes the GATA4 gene and may not detect mutations in other genes associated with Tetralogy of Fallot
  • ⚠Genetic variants of uncertain significance (VUS) may be identified, requiring further evaluation
  • ⚠Results do not guarantee disease development or severity, as environmental factors may play a role
  • ⚠Not suitable for detecting chromosomal abnormalities or large deletions/duplications without additional tests

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Rare risk of infection or hematoma
  • ●No significant risks associated with the genetic testing itself, but psychological impact of results may require support

Interfering Factors

  • ●Degraded or insufficient DNA sample quality
  • ●Contamination during sample collection or processing
  • ●Technical errors in sequencing or data analysis
  • ●Presence of hemolyzed or clotted blood samples

Compare With Similar Tests

TestGATA4 Gene Tetralogy of Fallot NGS Genetic Test
ComparisonGATA4 Gene Tetralogy of Fallot NGS Genetic TestNon-invasive imaging test to visualize heart structure and defects, but does not provide genetic information.Analyzes multiple genes associated with congenital heart diseases, offering broader coverage but at a higher cost.Detects chromosomal abnormalities but may not identify specific gene mutations like GATA4.Comprehensive genetic test covering all genes, but more expensive and time-consuming for targeted conditions.

Frequently Asked Questions

What is the GATA4 Gene Tetralogy of Fallot NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to analyze the GATA4 gene for mutations associated with Tetralogy of Fallot, a congenital heart defect.
Who should consider taking this test?
Individuals with symptoms of Tetralogy of Fallot, a family history of congenital heart defects, or those undergoing genetic counseling for prenatal planning.
How is the test performed?
A small blood sample is collected via venipuncture, and DNA is extracted and sequenced using NGS technology to detect mutations in the GATA4 gene.
What is the cost of the test?
The test costs INR 20,000, which includes sample collection, analysis, and report delivery. Home collection is available at no extra charge.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India for online bookings.
How long does it take to get results?
Results are typically available within 3-4 weeks from the date of sample collection.
What does a positive result mean?
A positive result indicates a pathogenic mutation in the GATA4 gene, which increases the risk for Tetralogy of Fallot. Genetic counseling and further medical evaluation are recommended.
What are the symptoms of Tetralogy of Fallot?
Symptoms include bluish tint to skin (cyanosis), fainting, clubbing of fingers and toes, shortness of breath, and fatigue during physical activity.
Can this test be used for prenatal diagnosis?
Yes, it can be used in prenatal genetic counseling for families with a history of Tetralogy of Fallot, but it should be complemented with other diagnostic methods.
Is the test covered by insurance?
Coverage varies by insurance provider and policy. It is not typically covered under government schemes like PMJAY or CGHS; check with your insurer for details.
What is the accuracy of the test?
The test uses advanced NGS technology with high accuracy for detecting mutations in the GATA4 gene, but results should be interpreted in clinical context.
How do I prepare for the test?
No special preparation is needed. Provide your clinical history, undergo genetic counseling, and ensure the sample is collected properly. No fasting is required.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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